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. 2021 May;62(2):289-295.
doi: 10.1007/s13353-020-00605-0. Epub 2021 Jan 9.

Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients

Janusz G Zimowski  1   2 , Joanna Purzycka  3 , Magdalena Pawelec  3 , Katarzyna Ozdarska  3 , Jacek Zaremba  3
Affiliations

Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients

Janusz G Zimowski et al. J Appl Genet. 2021 May.

Abstract

In the 164 patients with Duchenne/Becker muscular dystrophy, we found 142 different small mutations including 51 novel mutations not listed in the LOVD, the UMD-DMD, the ClinVar, and the HGMD databases. Among all mutations, nonsense mutations occurred in 45.7%, frameshift mutations in 32.9%, and splicing mutations in 19.5%. Small mutations were distributed throughout the whole dystrophin gene. Splicing mutations were twice more common in BMD patients than in DMD patients. Eighty-two percent of mothers of the males affected with DMD/BMD were found to be carriers of small mutations.

Keywords: BMD; Carriers; DMD; Novel mutations; Point mutations; Small mutations.

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